P0815 EVALUATION OF THE DELTA F508 MUTATION AND OF PANCREATIC INSUFFICIENCY BY THE FECAL ELASTASE TEST AND OF SOME CLINICAL CHARACTERISTICS OF CHILDREN AND ADOLESCENTS WITH CYSTIC FIBROSIS

Background: Autonomic nervous system balance is altered in cystic fibrosis (CF), although its influence on physical fitness has been poorly explored. Objective: This study aimed to evaluate the association of heart rate variability (HRV) with exercise capacity and levels of daily physical activity in children and adolescents with mild-to-moderate CF. Methods: A cross-sectional study including individuals with CF aged 6–18 years, not under CFTR modulator therapy, was performed. Sociodemographic (age, sex) and clinical information (airway colonization, pancreatic insufficiency, and genotyping) were collected. In addition, exercise capacity (modified shuttle test — MST), lung function (spirometry), body composition (bioimpedance), levels of daily physical activity (5-day accelerometer), and HRV (both at rest and during the MST) were evaluated. Results: 30 individuals (20 females) aged [Formula: see text] years, mean FEV[Formula: see text]%, were included. A sympathovagal balance (LF/HF) increase ([Formula: see text]) during the MST was shown, indicating a predominance of sympathetic modulation. The standard deviation of all RR intervals (SDNN) and the high frequency (HF) index during exercise correlated significantly with FEV1 ([Formula: see text], [Formula: see text] and [Formula: see text], [Formula: see text]; respectively). MST distance also correlated positively and significantly with SDNN ([Formula: see text], [Formula: see text]), square root of the mean of the sums of squares of frequencies between RR intervals greater than 50[Formula: see text]ms — RMSSD ([Formula: see text], [Formula: see text]), low frequency — LF ([Formula: see text], [Formula: see text]), HF ([Formula: see text], [Formula: see text]), dispersion of points perpendicular to the short-term identity line — SD1 ([Formula: see text], [Formula: see text]) and negatively with LF/HF ([Formula: see text], [Formula: see text]). Regarding daily physical activity, SDNN at rest ([Formula: see text], [Formula: see text]) and exercise ([Formula: see text], [Formula: see text]) showed positive correlations with time in moderate-to-vigorous activities. When normalizing the SDNN and classifying individuals as normal or altered, those presenting altered SDNN showed poorest FEV1 ([Formula: see text]) and lower exercise capacity ([Formula: see text]). Conclusion: HRV correlates with lung function, exercise capacity and levels of daily physical activity in children and adolescents with CF. The study highlights the influence of CF on autonomic function and suggests HRV measurement as an easy tool to be used in clinical settings as an alternative marker to monitor CF individuals.

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Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2017-0005 ◽

2017 ◽

Vol 30 (8) ◽

Cited By ~ 13

Author(s):

Nicolas Terliesner ◽

Mandy Vogel ◽

Anna Steighardt ◽

Ruth Gausche ◽

Constance Henn ◽

...

Keyword(s):

Cystic Fibrosis ◽

Lung Function ◽

Children And Adolescents ◽

Pancreatic Insufficiency ◽

Growth Failure ◽

Forced Expiratory Volume ◽

Exocrine Pancreatic Insufficiency ◽

Retrospective Case ◽

Poor Growth ◽

Impaired Lung Function

AbstractBackground:Impaired glucose metabolism and cystic fibrosis (CF)-related diabetes (CFRD) are associated with insufficient weight gain and impaired lung function in children and adolescents with CF. We have asked whether imminent CFRD may be a cause of poor growth in children and adolescents.Methods:A retrospective case control study including 32 patients with CF with or without diabetes was conducted. Sixteen pairs, matched according to age, gender and exocrine pancreatic insufficiency, were analysed. Standard deviation scores (SDS) of height, growth, weight, body mass index (BMI), forced vital capacity (FVC), forced expiratory volume in the first second (FEV1) and forced expiratory flow at 75% of expired FVC (FEF75) were recorded during a mean observation period of 13 years per patient.Results:SDS of height and weight were reduced in CF patients with diabetes compared to those without, not only at the point of diagnosis (both p<0.05) but years before the evidence of diabetes. Afterwards there was a significant decline in height (p<0.001) and weight (p<0.01) SDS in CFRD patients and an increasing difference between the height and weight of CF patients with or without diabetes. In contrast, no significant reduction of BMI-SDS was observed in CFRD patients. All analysed lung function parameters showed a marked decline in CFRD patients starting 1 year prior to the diagnosis of diabetes.Conclusions:Deteriorating growth, reduced weight and impaired lung function are related to the development of CFRD and are obvious several years before the actual diagnosis of diabetes.

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25: Seroprevalence and clinical characteristics of SARS-CoV-2 infection in children and adolescents with cystic fibrosis

Journal of Cystic Fibrosis ◽

10.1016/s1569-1993(21)01450-8 ◽

2021 ◽

Vol 20 ◽

pp. S13

Author(s):

G. Hergenroeder ◽

J. Cogen ◽

A. Genatossio ◽

S. McNamara ◽

M. Pascual ◽

...

Keyword(s):

Cystic Fibrosis ◽

Children And Adolescents ◽

Clinical Characteristics

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Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil

Jornal Brasileiro de Pneumologia ◽

10.1590/s1806-37562017000000418 ◽

2018 ◽

Vol 44 (6) ◽

pp. 498-504

Author(s):

Katiana Murieli da Rosa ◽

Eliandra da Silveira de Lima ◽

Camila Correia Machado ◽

Thaiane Rispoli ◽

Victória d’Azevedo Silveira ◽

...

Keyword(s):

Cystic Fibrosis ◽

Children And Adolescents ◽

Pancreatic Insufficiency ◽

Cross Sectional Study ◽

Phenotypic Traits ◽

Common Mutation ◽

Homozygous Mutation ◽

Cross Sectional ◽

Type Iii ◽

Nutritional Deficit

ABSTRACT Objectives: To characterize the main identified mutations on cystic fibrosis transmembrane conductance regulator (CFTR) in a group of children and adolescents at a cystic fibrosis center and its association with the clinical and laboratorial characteristics. Method: Descriptive cross-sectional study including patients with cystic fibrosis who had two alleles identified with CFTR mutation. Clinical, anthropometrical, laboratorial and pulmonary function (spirometry) data were collected from patients’ records in charts and described with the results of the sample genotyping. Results: 42 patients with cystic fibrosis were included in the study. The most frequent mutation was F508del, covering 60 alleles (71.4%). The second most common mutation was G542X (six alleles, 7.1%), followed by N1303K and R1162X mutations (both with four alleles each). Three patients (7.14%) presented type III and IV mutations, and 22 patients (52.38%) presented homozygous mutation for F508del. Thirty three patients (78.6%) suffered of pancreatic insufficiency, 26.2% presented meconium ileus, and 16.7%, nutritional deficit. Of the patients in the study, 59.52% would be potential candidates for the use of CFTR-modulating drugs. Conclusions: The mutations of CFTR identified more frequently were F508del and G542X. These are type II and I mutations, respectively. Along with type III, they present a more severe cystic fibrosis phenotype. More than half of the sample (52.38%) presented homozygous mutation for F508del, that is, patients who could be treated with Lumacaftor/Ivacaftor. Approximately 7% of the patients (7.14%) presented type III and IV mutations, therefore becoming candidates for the treatment with Ivacaftor.

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